MUTATIONS Flashcards

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1
Q

What is a mutation

A

A change in structure of a gene due to a change in a section of a gene or alteration to the chromosome where the gene is located

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2
Q

What are gene mutations

A

Mutations that affect small regions of DNA, usually one base (point mutation)
Occur during the s phase of the cell cycle

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3
Q

What are chromosome mutations

A

Mutations that affect large regions of DNA that is contained within chromosomes
Occurs during metaphase of meiosis

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4
Q

What are mutagenic agents

A

Increase the rate of reactions

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5
Q

What are the two types of mutagenic agents

A

Carcinogens - cause a mutation in one cell that leads to tumor growth
Mutagen - causes mutation in one cell or an entire organism that can be inherited

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6
Q

Effect of radiation regarding mutation

A

High energy ionising radiation such as x-rays uv or alpha radiation ionise bases or affect bonding of correct base pairs

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7
Q

Effect of chemicals regarding mutation

A

Intercalating (separates DNA strand)
E.g. mustard gas, agent orange or asbestos

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8
Q

How can viruses cause mutation

A

Some viruses such as HPV can change the base sequence in DNA causing genetic disease and cancer

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9
Q

Three types of point mutations

A

Substitution missense
Substitution nonsense
Deletion

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10
Q

What is substitution reaction

A

A change in a single nucleotide base (pair)

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11
Q

What is a substitution missense mutation

A

Results in a single amino acid change

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12
Q

What is a substitution nonsense mutation

A

A substitution that results in a stop codon instead of an amino acid, usually resulting in a non-functional protein

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13
Q

Deletion mutations

A

Either a single base (point) or a section of the gene is missed during replication
Results in a frame shift where subsequent codons within the gene are also effected

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14
Q

Overall effect of a base substitution or deletion

A
  1. Change in base sequence could lead to a change in the amino acid sequence
  2. This would lead to a change in the tertiary structure of the protein as
  3. Bonds (ionic/hydrogen) would be in different places
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15
Q

What feature of the genetic code makes substitution mutations less harmful

A

Degenerate- substitution mutations can still code for the correct amino acid
Code is a triplet and non- overlapping so introducing or deleting a base causes a frame shift or nonsense where subsequent codons are also effected whereas substitution can only affect one codon (missense)

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16
Q

Sickle cell

A

An inherited disorder
Caused by a gene mutation coding for a faulty beta chain haemoglobin protein
Leads to characteristic sickle cell shape observed in the red blood cells